| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 5538 |
Name | PPT1 |
Synonymous | palmitoyl-protein thioesterase 1;PPT1;palmitoyl-protein thioesterase 1 |
Definition | ceroid-palmitoyl-palmitoyl-protein thioesterase 1|palmitoyl-protein hydrolase 1 |
Position | 1p32 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.232G>T; p.E78*; 1:40092400-40092400 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.549C>T; p.A183A; 1:40080475-40080475 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.549C>T; p.A183A; 1:40080475-40080475 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.326A>G; p.Y109C; 1:40092081-40092081 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.755C>G; p.A252G; 1:40076885-40076885 |
liver | carcinoma | Substitution - Missense |
c.713C>T; p.P238L; 1:40078573-40078573 |
skin | malignant_melanoma | Substitution - Missense |
c.891T>G; p.F297L; 1:40074091-40074091 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.787C>T; p.L263L; 1:40076853-40076853 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.858A>G; p.E286E; 1:40074124-40074124 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.308C>A; p.P103H; 1:40092099-40092099 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.413C>T; p.S138L; 1:40091349-40091349 |
skin | malignant_melanoma | Substitution - Missense |
c.567C>T; p.P189P; 1:40080457-40080457 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.743G>A; p.R248K; 1:40076897-40076897 |
breast | carcinoma | Substitution - Missense |
c.530A>G; p.Q177R; 1:40089416-40089416 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.122T>G; p.M41R; 1:40097117-40097117 |
thyroid | other; neoplasm | Substitution - Missense |
c.14G>C; p.G5A; 1:40097225-40097225 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.202T>C; p.L68L; 1:40092430-40092430 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.626G>A; p.R209Q; 1:40080398-40080398 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.401T>C; p.I134T; 1:40091361-40091361 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.626G>A; p.R209Q; 1:40080398-40080398 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.451C>T; p.R151*; 1:40089495-40089495 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.228G>A; p.L76L; 1:40092404-40092404 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.560A>C; p.H187P; 1:40080464-40080464 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.11C>T; p.P4L; 1:40097228-40097228 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.829G>A; p.A277T; 1:40074153-40074153 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.169delA; p.M57fs*14; 1:40092463-40092463 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.169delA; p.M57fs*14; 1:40092463-40092463 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.169delA; p.M57fs*14; 1:40092463-40092463 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.449C>A; p.P150H; 1:40089497-40089497 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.550G>A; p.E184K; 1:40080474-40080474 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.363-4G>A; p.?; 1:40091403-40091403 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.343T>C; p.S115P; 1:40092064-40092064 |
skin | malignant_melanoma | Substitution - Missense |
c.65G>C; p.R22P; 1:40097174-40097174 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.636T>C; p.N212N; 1:40078650-40078650 |
breast | carcinoma | Substitution - coding silent |
c.433G>A; p.G145S; 1:40091329-40091329 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.89C>T; p.P30L; 1:40097150-40097150 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.506C>T; p.A169V; 1:40089440-40089440 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.490C>A; p.R164R; 1:40089456-40089456 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.633C>A; p.I211I; 1:40078653-40078653 |
skin | malignant_melanoma | Substitution - coding silent |
c.422delG; p.G141fs*27; 1:40091340-40091340 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.587G>A; p.R196H; 1:40080437-40080437 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.491G>A; p.R164Q; 1:40089455-40089455 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.797A>G; p.Q266R; 1:40076843-40076843 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.803G>A; p.R268H; 1:40074179-40074179 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.803G>A; p.R268H; 1:40074179-40074179 |
skin | malignant_melanoma | Substitution - Missense |
c.622G>A; p.E208K; 1:40080402-40080402 |
liver | carcinoma | Substitution - Missense |
c.213G>T; p.E71D; 1:40092419-40092419 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.414G>A; p.S138S; 1:40091348-40091348 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |